Tadashi Kaname
National Center For Child Health and Development(JP)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, RNA Research and Splicing
Most-Cited Works
- → Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome(2012)519 cited
- → A SNP in the ABCC11 gene is the determinant of human earwax type(2006)294 cited
- → Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome(2011)194 cited
- → Roles of Basigin, a Member of the Immunoglobulin Superfamily, in Behavior as to an Irritating Odor, Lymphocyte Response, and Blood–Brain Barrier(1996)118 cited
- → SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice(2010)116 cited
- → Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature(2013)101 cited
- → De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism(2018)75 cited
- → Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures(2019)70 cited
- → STAT6 gain-of-function variant exacerbates multiple allergic symptoms(2022)61 cited
- → Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders(2018)52 cited